Publications
- Spliceosome malfunction causes neurodevelopmental disorders with overlapping features2024 | Second Faculty of Medicine
- Solving patients with rare diseases through programmatic reanalysis of genome-phenome data2021 | Second Faculty of Medicine
- Molecular genetic analysis in 14 Czech Kabuki syndrome patients is confirming the utility of phenotypic scoring2016 | Second Faculty of Medicine, First Faculty of Medicine, Faculty of Medicine in Hradec Králové, Faculty of Physical Education and Sport
- Expanded DMPK repeats in dizygotic twins referred for diagnosis of autism versus absence of expanded DMPK repeats at screening of 330 children with autism2016 | Second Faculty of Medicine
- Spectrum and Frequency of SLC26A4 Mutations Among Czech Patients with Early Hearing Loss with and without Enlarged Vestibular Aqueduct (EVA)2010 | Second Faculty of Medicine, Central Library of Charles University
- Axenfeld-Rieger syndrome: more than meets the eye2023 | Second Faculty of Medicine, First Faculty of Medicine
- Long-term anatomical and functional outcomes of surgical treatment of retinal complications in children and adolescents with Stickler syndrome between 2004 and 20212023 | Second Faculty of Medicine
- Co-designing models for the communication of genomic results for rare diseases: a comparative study in the Czech Republic and the United Kingdom2022 | Second Faculty of Medicine, First Faculty of Medicine
- Speech Perception and Production in Cochlear Implant Recipients with Pendred Syndrome2021 | Second Faculty of Medicine, Third Faculty of Medicine, First Faculty of Medicine
- Stickler syndrome in the Czech Republic: phenotypic variability and genetic heterogeneity2021 | Second Faculty of Medicine
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